List of variants in gene SLC7A7 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003982.4(SLC7A7):c.895-2A>T	rs146582474	0.00036
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00002
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)	rs121908679	0.00001
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	rs386833800

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